Paralogue Annotation for RYR1 residue 2435

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2435
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2435

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R2401HVentricular tachycardia, polymorphicHigh9 15749201, 24025405, 24136861, 20851825
RYR2R2401LVentricular tachycardia, polymorphicHigh9 16436635, 24025405

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.

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See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2435Hc.7304G>A Other MyopathySIFT:
ReportsOther Myopathy A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993 5(1):46-50. 8220422
Other Myopathy Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J Gen Physiol. 2001 118(3):277-90. 11524458
Other Myopathy Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156
Other Myopathy Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesth Analg. 2011 113(5):1120-8. 21965348
Other Myopathy Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem. 1997 272(42):26332-9. 9334205
Other Myopathy Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem. 1999 274(2):693-702. 9873004
Unknown The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics. 1996 34(1):24-41. 8661021
Other Myopathy Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. Anesth Analg. 2014 118(2):381-7. doi: 10.1213/ANE.0b013e3182937d8b. 23842196
p.R2435Lc.7304G>T Other MyopathySIFT:
ReportsOther Myopathy Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet. 1999 36(2):115-8. 10051009
Other Myopathy A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium. 2009 45(2):192-7. doi: 10.1016/j.ceca.2008.10.001. 19027160
Other Myopathy Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838